網膜色素変性症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	NM_003322.6(TULP1):c.524dup (p.Pro176fs)	TULP1	Pathogenic	6	35477680	35477681	T	TG	criteria provided, single submitter	-
Deletion	NM_003322.6(TULP1):c.725_728del (p.Pro242fs)	TULP1	Pathogenic	6	35477080	35477083	TTTGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275433
Deletion	NM_003322.6(TULP1):c.845del (p.Pro282fs)	TULP1	Pathogenic	6	35473934	35473934	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602945
Duplication	NM_003322.6(TULP1):c.855dup (p.Val286fs)	TULP1	Likely pathogenic	6	35473923	35473924	C	CG	criteria provided, single submitter	ClinGen:CA658796759
Deletion	NM_003322.6(TULP1):c.901del (p.Gln301fs)	TULP1	Pathogenic	6	35473878	35473878	TG	T	criteria provided, single submitter	ClinGen:CA227718
single nucleotide variant	NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter)	TULP1	Pathogenic/Likely pathogenic	6	35473606	35473606	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA363779845
single nucleotide variant	NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)	TULP1	Pathogenic	6	35473528	35473528	C	A	criteria provided, single submitter	ClinGen:CA259775,UniProtKB:O00294#VAR_065500,OMIM:602280.0012
single nucleotide variant	NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)	TULP1	Pathogenic	6	35471593	35471593	A	G	criteria provided, single submitter	ClinGen:CA254156,UniProtKB:O00294#VAR_037584,OMIM:602280.0006
single nucleotide variant	NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)	TULP1	Pathogenic	6	35471540	35471540	G	A	criteria provided, single submitter	ClinGen:CA259774,UniProtKB:O00294#VAR_065501,OMIM:602280.0011
single nucleotide variant	NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro)	TULP1	Pathogenic	6	35471400	35471400	C	G	criteria provided, single submitter	ClinGen:CA227700,UniProtKB:O00294#VAR_007941,OMIM:602280.0001